ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826464675
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000467112
RCV001013110
RCV004000784
ClinVar Variation:
408506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Gln527Glu
CA16611035
NM_001258281.1:c.1579C>G